Manuel Mattheisen

Common genetic variants influence human subcortical brain structures

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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Common genetic variants influence human subcortical brain structures. / Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Mallar Chakravarty, M; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; The Alzheimer’s Disease Neuroimaging Initiative.

In: Nature, 21.01.2015.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Hibar, DP, Stein, JL, Renteria, ME, Arias-Vasquez, A, Desrivières, S, Jahanshad, N, Toro, R, Wittfeld, K, Abramovic, L, Andersson, M, Aribisala, BS, Armstrong, NJ, Bernard, M, Bohlken, MM, Boks, MP, Bralten, J, Brown, AA, Mallar Chakravarty, M, Chen, Q, Ching, CRK, Cuellar-Partida, G, den Braber, A, Giddaluru, S, Goldman, AL, Grimm, O, Guadalupe, T, Hass, J, Woldehawariat, G, Holmes, AJ, Hoogman, M, Janowitz, D, Jia, T, Kim, S, Klein, M, Kraemer, B, Lee, PH, Olde Loohuis, LM, Luciano, M, Macare, C, Mather, KA, Mattheisen, M, Milaneschi, Y, Nho, K, Papmeyer, M, Ramasamy, A, Risacher, SL, Roiz-Santiañez, R, Rose, EJ, Salami, A, Sämann, PG & The Alzheimer’s Disease Neuroimaging Initiative 2015, 'Common genetic variants influence human subcortical brain structures', Nature. https://doi.org/10.1038/nature14101

APA

Hibar, D. P., Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., Jahanshad, N., Toro, R., Wittfeld, K., Abramovic, L., Andersson, M., Aribisala, B. S., Armstrong, N. J., Bernard, M., Bohlken, M. M., Boks, M. P., Bralten, J., Brown, A. A., Mallar Chakravarty, M., Chen, Q., ... The Alzheimer’s Disease Neuroimaging Initiative (2015). Common genetic variants influence human subcortical brain structures. Nature. https://doi.org/10.1038/nature14101

CBE

Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Mallar Chakravarty M, Chen Q, Ching CRK, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, The Alzheimer’s Disease Neuroimaging Initiative. 2015. Common genetic variants influence human subcortical brain structures. Nature. https://doi.org/10.1038/nature14101

MLA

Vancouver

Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N et al. Common genetic variants influence human subcortical brain structures. Nature. 2015 Jan 21. https://doi.org/10.1038/nature14101

Author

Hibar, Derrek P ; Stein, Jason L ; Renteria, Miguel E ; Arias-Vasquez, Alejandro ; Desrivières, Sylvane ; Jahanshad, Neda ; Toro, Roberto ; Wittfeld, Katharina ; Abramovic, Lucija ; Andersson, Micael ; Aribisala, Benjamin S ; Armstrong, Nicola J ; Bernard, Manon ; Bohlken, Marc M ; Boks, Marco P ; Bralten, Janita ; Brown, Andrew A ; Mallar Chakravarty, M ; Chen, Qiang ; Ching, Christopher R K ; Cuellar-Partida, Gabriel ; den Braber, Anouk ; Giddaluru, Sudheer ; Goldman, Aaron L ; Grimm, Oliver ; Guadalupe, Tulio ; Hass, Johanna ; Woldehawariat, Girma ; Holmes, Avram J ; Hoogman, Martine ; Janowitz, Deborah ; Jia, Tianye ; Kim, Sungeun ; Klein, Marieke ; Kraemer, Bernd ; Lee, Phil H ; Olde Loohuis, Loes M ; Luciano, Michelle ; Macare, Christine ; Mather, Karen A ; Mattheisen, Manuel ; Milaneschi, Yuri ; Nho, Kwangsik ; Papmeyer, Martina ; Ramasamy, Adaikalavan ; Risacher, Shannon L ; Roiz-Santiañez, Roberto ; Rose, Emma J ; Salami, Alireza ; Sämann, Philipp G ; The Alzheimer’s Disease Neuroimaging Initiative. / Common genetic variants influence human subcortical brain structures. In: Nature. 2015.

Bibtex

@article{6f60d3dcd2904e95be8ed0d648b74a48,
title = "Common genetic variants influence human subcortical brain structures",
abstract = "The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.",
author = "Hibar, {Derrek P} and Stein, {Jason L} and Renteria, {Miguel E} and Alejandro Arias-Vasquez and Sylvane Desrivi{\`e}res and Neda Jahanshad and Roberto Toro and Katharina Wittfeld and Lucija Abramovic and Micael Andersson and Aribisala, {Benjamin S} and Armstrong, {Nicola J} and Manon Bernard and Bohlken, {Marc M} and Boks, {Marco P} and Janita Bralten and Brown, {Andrew A} and {Mallar Chakravarty}, M and Qiang Chen and Ching, {Christopher R K} and Gabriel Cuellar-Partida and {den Braber}, Anouk and Sudheer Giddaluru and Goldman, {Aaron L} and Oliver Grimm and Tulio Guadalupe and Johanna Hass and Girma Woldehawariat and Holmes, {Avram J} and Martine Hoogman and Deborah Janowitz and Tianye Jia and Sungeun Kim and Marieke Klein and Bernd Kraemer and Lee, {Phil H} and {Olde Loohuis}, {Loes M} and Michelle Luciano and Christine Macare and Mather, {Karen A} and Manuel Mattheisen and Yuri Milaneschi and Kwangsik Nho and Martina Papmeyer and Adaikalavan Ramasamy and Risacher, {Shannon L} and Roberto Roiz-Santia{\~n}ez and Rose, {Emma J} and Alireza Salami and S{\"a}mann, {Philipp G} and {The Alzheimer{\textquoteright}s Disease Neuroimaging Initiative}",
year = "2015",
month = jan,
day = "21",
doi = "10.1038/nature14101",
language = "English",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",

}

RIS

TY - JOUR

T1 - Common genetic variants influence human subcortical brain structures

AU - Hibar, Derrek P

AU - Stein, Jason L

AU - Renteria, Miguel E

AU - Arias-Vasquez, Alejandro

AU - Desrivières, Sylvane

AU - Jahanshad, Neda

AU - Toro, Roberto

AU - Wittfeld, Katharina

AU - Abramovic, Lucija

AU - Andersson, Micael

AU - Aribisala, Benjamin S

AU - Armstrong, Nicola J

AU - Bernard, Manon

AU - Bohlken, Marc M

AU - Boks, Marco P

AU - Bralten, Janita

AU - Brown, Andrew A

AU - Mallar Chakravarty, M

AU - Chen, Qiang

AU - Ching, Christopher R K

AU - Cuellar-Partida, Gabriel

AU - den Braber, Anouk

AU - Giddaluru, Sudheer

AU - Goldman, Aaron L

AU - Grimm, Oliver

AU - Guadalupe, Tulio

AU - Hass, Johanna

AU - Woldehawariat, Girma

AU - Holmes, Avram J

AU - Hoogman, Martine

AU - Janowitz, Deborah

AU - Jia, Tianye

AU - Kim, Sungeun

AU - Klein, Marieke

AU - Kraemer, Bernd

AU - Lee, Phil H

AU - Olde Loohuis, Loes M

AU - Luciano, Michelle

AU - Macare, Christine

AU - Mather, Karen A

AU - Mattheisen, Manuel

AU - Milaneschi, Yuri

AU - Nho, Kwangsik

AU - Papmeyer, Martina

AU - Ramasamy, Adaikalavan

AU - Risacher, Shannon L

AU - Roiz-Santiañez, Roberto

AU - Rose, Emma J

AU - Salami, Alireza

AU - Sämann, Philipp G

AU - The Alzheimer’s Disease Neuroimaging Initiative

PY - 2015/1/21

Y1 - 2015/1/21

N2 - The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

AB - The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

U2 - 10.1038/nature14101

DO - 10.1038/nature14101

M3 - Journal article

C2 - 25607358

JO - Nature

JF - Nature

SN - 0028-0836

ER -